Genetics and pathogenesis of Parkinson's syndrome

H Ye, LA Robak, M Yu, M Cykowski… - Annual Review of …, 2023 - annualreviews.org
Parkinson's disease (PD) is clinically, pathologically, and genetically heterogeneous,
resisting distillation to a single, cohesive disorder. Instead, each affected individual develops …

The cell biology of LRRK2 in Parkinson's disease

A Usmani, F Shavarebi, A Hiniker - Molecular and Cellular Biology, 2021 - Am Soc Microbiol
Point mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common cause of
familial Parkinson's disease (PD) and are implicated in a significant proportion of apparently …

Sphingolipids in neurodegenerative diseases

X Pan, D Dutta, S Lu, HJ Bellen - Frontiers in Neuroscience, 2023 - frontiersin.org
Neurodegenerative Diseases (NDDs) are a group of disorders that cause progressive
deficits of neuronal function. Recent evidence argues that sphingolipid metabolism is …

Membrane heterogeneity controls cellular endocytic trafficking

GMI Redpath, VM Betzler, P Rossatti… - Frontiers in cell and …, 2020 - frontiersin.org
Endocytic trafficking relies on highly localized events in cell membranes. Endocytosis
involves the gathering of protein (cargo/receptor) at distinct plasma membrane locations …

Human iPSC 4R tauopathy model uncovers modifiers of tau propagation

CP Bravo, AM Giani, J Madero-Perez, Z Zhao, Y Wan… - Cell, 2024 - cell.com
Tauopathies are age-associated neurodegenerative diseases whose mechanistic
underpinnings remain elusive, partially due to a lack of appropriate human models. Here …

Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans

JL Courtland, TWA Bradshaw, G Waitt, EJ Soderblom… - Elife, 2021 - elifesciences.org
Mutation of the Wiskott–Aldrich syndrome protein and SCAR homology (WASH) complex
subunit, SWIP, is implicated in human intellectual disability, but the cellular etiology of this …

Opposing functions for retromer and Rab11 in extracellular vesicle traffic at presynaptic terminals

RB Walsh, EC Dresselhaus, AN Becalska… - Journal of Cell …, 2021 - rupress.org
Neuronal extracellular vesicles (EVs) play important roles in intercellular communication
and pathogenic protein propagation in neurological disease. However, it remains unclear …

Receptor recycling by retromer

JM Carosi, D Denton, S Kumar… - Molecular and Cellular …, 2023 - Taylor & Francis
The highly conserved retromer complex controls the fate of hundreds of receptors that pass
through the endolysosomal system and is a central regulatory node for diverse metabolic …

OXR1 maintains the retromer to delay brain aging under dietary restriction

KA Wilson, S Bar, EB Dammer, EM Carrera… - Nature …, 2024 - nature.com
Dietary restriction (DR) delays aging, but the mechanism remains unclear. We identified
polymorphisms in mtd, the fly homolog of OXR1, which influenced lifespan and mtd …

Circadian rhythm disruptions associated with opioid use disorder in synaptic proteomes of human dorsolateral prefrontal cortex and nucleus accumbens

S Puig, X Xue, R Salisbury, MA Shelton, SM Kim… - Molecular …, 2023 - nature.com
Opioid craving and relapse vulnerability is associated with severe and persistent sleep and
circadian rhythm disruptions. Understanding the neurobiological underpinnings of circadian …